ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.210del (p.Ile70fs)

dbSNP: rs760999895
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001950912 SCV002231559 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-10-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile70Metfs*18) in the RAPSN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAPSN are known to be pathogenic (PMID: 17686188). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with RAPSN-related conditions. This variant is present in population databases (rs760999895, ExAC 0.01%).
Baylor Genetics RCV003464308 SCV004206113 likely pathogenic Fetal akinesia deformation sequence 2 2023-02-03 criteria provided, single submitter clinical testing

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